Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 7

Results: 14

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1075, doi. 10.1093/hmg/9.7.1075

By:

Lukong, Kiven E.

Publication type:

Article

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1021, doi. 10.1093/hmg/9.7.1021

By:

Smith, Richard S.;
Zabaleta, Adriana;
Kume, Tsutomu;
Savinova, Olga V.;
Kidson, Susan H.;
Martin, Janice E.;
Nishimura, Darryl Y.;
Alward, Wallace L. M.;
Hogan, Brigid L. M.;
John, Simon W. M.

Publication type:

Article

Sequential deletion of C-terminal amino acids of the E[sub 1] α component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E[sub 1] α [sub 2] β [sub 2] tetramers: implications for pati...

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1041, doi. 10.1093/hmg/9.7.1041

By:

Seyda, Agnieszka

Publication type:

Article

Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1059, doi. 10.1093/hmg/9.7.1059

By:

Rutkowski, J. Lynn

Publication type:

Article

LMX1B transactivation and expression in nail-patella syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1067, doi. 10.1093/hmg/9.7.1067

By:

Dreyer, Sandra D.;
Morello, Roy;
German, Michael S.;
Zabel, Bernhard;
Winterpacht, Andreas;
Lunstrum, Gregory P.;
Horton, William A.;
Oberg, Kerby C.;
Lee, Brendan

Publication type:

Article

Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1087, doi. 10.1093/hmg/9.7.1087

By:

Liu, Yujing

Publication type:

Article

Genome-wide scan for adult onset primary open angle glaucoma.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1109, doi. 10.1093/hmg/9.7.1109

By:

Wiggs, J. L.

Publication type:

Article

Single nucleotide polymorphism and linkage disequilibrium within the TCR α /δ locus.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1011, doi. 10.1093/hmg/9.7.1011

By:

Moffatt, M. F.

Publication type:

Article

Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1049, doi. 10.1093/hmg/9.7.1049

By:

Ekelund, Jesper;
Lichtermann, Dirk

Publication type:

Article

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1119, doi. 10.1093/hmg/9.7.1119

By:

Cheadle, Jeremy P.

Publication type:

Article

Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation?

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1093, doi. 10.1093/hmg/9.7.1093

By:

Campbell, Louise

Publication type:

Article

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca[sup 2+] pump.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1131, doi. 10.1093/hmg/9.7.1131

By:

Sudbrak, Ralf;
Brown, Joanna;
Dobson-Stone, Carol;
Carter, Simon;
Ramser, Juliane;
White, Jacqueline;
Healy, Eugene;
Dissanayake, Manel;
Larrègue, Marc;
Perrussel, Marc;
Lehrach, Hans;
Munro, Colin S.;
Strachan, Tom;
Burge, Susan;
Hovnanian, Alain;
Monaco, Anthony P.

Publication type:

Article

Expression of arylamine N -acetyltransferases in pre-term placentas and in human pre-implantation embryos.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1101, doi. 10.1093/hmg/9.7.1101

By:

Smelt, V. A.

Publication type:

Article

Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 7, p. 1033, doi. 10.1093/hmg/9.7.1033

By:

Yoshida, Mikiharu

Publication type:

Article